Patau sendromlu üç olgu: Sendroma klinik triad (mikroftalmi, yarık dudak/ damak, polidaktili) her zaman eşlik eder mi?

Hazan F; Olukman Ö; Gökaslan F; Çalkavur Ş; Meşe T; Tavlı V; Atlıhan F

EN TR

Three cases of Patau’s syndrome: Does the clinical triad (microphtalmia, cleft lip/ palate, polydactyly) always accompany the syndrome?

Abstract

Trisomy 13 (Patau's syndrome) is a chromosomal disease characterized by midline defects, central nervous system, heart, urogenital system anomalies and motor mental retardation. The prevalence is between 1:10.000 and 1:20.000 births. A vast majority of the patients die in the first year. Patau's syndrome is characterized by the clinical triad including microphtalmia, cleft lip/palate, and polydactyly. Here, we present three patients who were diagnosed with Patau's syndrome both clinically and cytogenetically. When considered in terms of the clinical triad of the syndrome, the first patient had microphtalmia / anophthalmia and polydactyly. The second patient had only polydactyly and the third patient had anophthalmia, cleft palate and polydactyly. We would like to emphasize that for clinic diagnosis of Patau's syndrome, the triad finding should not necessarily be expected in all cases and for the diagnosis of a newborn with multiple anomalies, other signs of the syndrome should be taken into consideration. For the final diagnosis, karyotype analysis is necessary.

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Details

Primary Language

Turkish

Subjects

Health Care Administration

Journal Section

Research Article

Authors

Hazan F

Olukman Ö

Gökaslan F

Çalkavur Ş

Meşe T

Tavlı V

Atlıhan F

Publication Date

June 1, 2013

Submission Date

June 1, 2013

Acceptance Date

-

Published in Issue

Year 1970 Volume: 52 Number: 2

IZ

https://izlik.org/JA46MU56GR

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RIS / Bibtex

Vancouver

1.Hazan F, Olukman Ö, Gökaslan F, Çalkavur Ş, Meşe T, Tavlı V, Atlıhan F. Patau sendromlu üç olgu: Sendroma klinik triad (mikroftalmi, yarık dudak/ damak, polidaktili) her zaman eşlik eder mi? EJM [Internet]. 2013 Jun. 1;52(2):104-8. Available from: https://izlik.org/JA46MU56GR

Three cases of Patau’s syndrome: Does the clinical triad (microphtalmia, cleft lip/ palate, polydactyly) always accompany the syndrome?

Three cases of Patau’s syndrome: Does the clinical triad (microphtalmia, cleft lip/ palate, polydactyly) always accompany the syndrome?

Abstract

Keywords